Prenatal diagnosis of haemophilia A by using intron 1 inversion detection [7]

Haemophilia

Volumn 13, Issue 6, 2007, Pages 772-774

  Salviato, R ^a   Belvini, D ^a   Zanotto, D ^a   Di Gaetano, R ^a   Radossi, P ^a   Sartori, R ^a   Tassinari, C ^a   Tagariello, Giuseppe ^a  

^a Castelfranco Veneto Hospital   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMELOGENIN; DNA;

CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 1; CHROMOSOME 22; CHROMOSOME INVERSION; DNA DETERMINATION; FETUS; GESTATION PERIOD; HEMOPHILIA A; HUMAN; INTRON; LETTER; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

FEMALE; HEMOPHILIA A; HUMANS; INTRONS; INVERSION, CHROMOSOME; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; RISK FACTORS;

EID: 35549003120     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01550.x     Document Type: Letter

References (8)

1. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-41.
2. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
3. Bagnall D, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
4. Schroder J, El-Maarri O, Schwaab R, Muller CR, Oldenburg J. Factor VIII intron1 inversion: Frequency and inhibitor prevalence. J Thromb Haemost 2006; 4: 1141-3.
5. Salviato R, Belvini D, Are A, Radossi P, Tagariello G. Factor VIII gene intron 1 inversion: Lower than expected prevalence in Italian haemophiliac severe patients. Haemophilia 2004; 10: 194-6.
6. Schwaab R, Brakman H, Meyer C, et al. Haemophilia A: Mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
7. Saint-Remy JM, Lacroix-Desmazes S, Oldenburg J. Inhibitor in haemophilia: Pathophysiology. Haemophilia 2004; 10: 146-51.
8. Belvini D, Salviato R, Are A, Radossi P, Tagariello G. Rapid prenatal diagnosis of haemophilia. Haemophilia 2001; 7: 603-4.